KCNK1
KCNK1 is a gene that encodes a member of the potassium channel, subfamily K, member 1 (KCNK1) protein family. This family is part of a larger group of proteins known as potassium channels, which are integral membrane proteins that facilitate the flow of potassium ions across the cell membrane.
Function[edit | edit source]
The protein encoded by the KCNK1 gene belongs to the superfamily of potassium channel proteins containing two pore-forming P domains. Potassium channels play a key role in a wide variety of cellular processes, including regulation of cell membrane potential, neuronal excitability, insulin secretion, smooth muscle contraction, and cell volume regulation.
Clinical Significance[edit | edit source]
Mutations in the KCNK1 gene have been associated with several neurological disorders, including epilepsy, migraine, and pain disorders. In addition, alterations in the expression or function of KCNK1 have been implicated in the development of certain types of cancer, including breast cancer and colorectal cancer.
Research[edit | edit source]
Research into the KCNK1 gene and its associated protein is ongoing, with a focus on understanding the role of this gene in health and disease. This research may lead to the development of new therapeutic strategies for conditions associated with alterations in KCNK1.
See Also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD